Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.D115V
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HSD17B4

NM_000414.4:p.D115V

Associated Papers

One novel HSD17B4 mutation in association with D-bifunctional protein deficiency: a case report and literature review.

Xiong L et al.

Frontiers in Pediatrics, 2025

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Biological_Context_Filter
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